The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
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Author / Creator
Ng, Yi Shiau , Alston, Charlotte L , Diodato, Daria , Morris, Andrew A , Ulrick, Nicole , Kmoch, Stanislav , Houštěk, Josef , Martinelli, Diego , Haghighi, Alireza , Atiq, Mehnaz , Gamero, Montserrat Anton , Garcia-Martinez, Elena , Kratochvílová, Hana , Santra, Saikat , Brown, Ruth M , Brown, Garry K , Ragge, Nicola , Monavari, Ahmad , Pysden, Karen , Ravn, Kirstine , Casey, Jillian P , Khan, Arif , Chakrapani, Anupam , Vassallo, Grace , Simons, Cas , McKeever, Karl , O'Sullivan, Siobhan , Childs, Anne-Marie , Østergaard, Elsebet , Vanderver, Adeline , Goldstein, Amy , Vogt, Julie , Taylor, Robert W and McFarland, Robert
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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More information
Scope and Contents
Contents
BackgroundMutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects.MethodsWe summarised the clinical, biochemical and molecular genetic investigation of an international cohort of affected individ...
Alternative Titles
Full title
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Authors, Artists and Contributors
Author / Creator
Alston, Charlotte L
Diodato, Daria
Morris, Andrew A
Ulrick, Nicole
Kmoch, Stanislav
Houštěk, Josef
Martinelli, Diego
Haghighi, Alireza
Atiq, Mehnaz
Gamero, Montserrat Anton
Garcia-Martinez, Elena
Kratochvílová, Hana
Santra, Saikat
Brown, Ruth M
Brown, Garry K
Ragge, Nicola
Monavari, Ahmad
Pysden, Karen
Ravn, Kirstine
Casey, Jillian P
Khan, Arif
Chakrapani, Anupam
Vassallo, Grace
Simons, Cas
McKeever, Karl
O'Sullivan, Siobhan
Childs, Anne-Marie
Østergaard, Elsebet
Vanderver, Adeline
Goldstein, Amy
Vogt, Julie
Taylor, Robert W
McFarland, Robert
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5264221
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5264221
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2016-103910
